Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.
Objectives: Novel coronavirus-19 (COVID-19) has led to over 6 million fatalities globally. An estimated 75% of COVID-19 patients who require critical care admission develop acute respiratory distress syndrome (ARDS) needing invasive mechanical ventilation (IMV) and/or extracorporeal membrane oxygenation (ECMO). Due to prolonged ventilation requirements, these patients often also require tracheostomy. We performed a review of clinical outcomes in COVID-19 patients on ECMO at a high-volume tertiary care center in Hamilton, Ontario, Canada. Methodology: We performed a retrospective case series, including 24 adult patients diagnosed with COVID-19 who required IMV, veno-venous (ECMO), and tracheostomy. All patients were included from April to December 2021. We extracted demographic and clinical variables pertaining to the tracheostomy procedure and ECMO therapy. We performed descriptive statistical analyses. This study was approved by the Hamilton Integrated Research Ethics Board (14217-C). Results: We included 24 consecutive patients with COVID-19 who required tracheostomy while undergoing ECMO therapy. The mean age was 49.4 years [standard deviation (SD): 7.33], the majority of patients were male (75%), with mean body mass index of 32 (SD: 8.81). Overall mortality rate was 33.3%. Percutaneous tracheostomy was performed most frequently (83.3%) and, similar to open tracheostomy, was associated with a low rate of perioperative bleeding complications. Within surviving patients, the mean time to IMV weaning and decannulation was 60.2 (SD: 24.6) and 49.4 days (SD: 21.8), respectively. Conclusion: Percutaneous tracheostomy appears to be safe in COVID-19 patients on ECMO and holding anticoagulation 24 hours prior to and after tracheostomy may limit bleeding events in these patients.
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